FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma

Journal of Pathology

Volumn 238, Issue 4, 2016, Pages 502-507

  Puls, Florian ^a,d   Hofvander, Jakob ^b   Magnusson, Linda ^c   Nilsson, Jenny ^b   Haywood, Elaine ^a   Sumathi, Vaiyapuri P ^a   Mangham, D Chas ^a,c   Kindblom, Lars Gunnar ^a   Mertens, Fredrik ^b  

^a ROYAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

calcifying aponeurotic fibroma; epidermal growth factor; fibronectin; gene fusion; juvenile aponeurotic fibroma; soft tissue neoplasm

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRONECTIN; MESSENGER RNA; FN1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CALCIFYING APONEUROTIC FIBROMA; CARCINOGENESIS; CHILD; CHIMERA; CHROMOSOME 2; CHROMOSOME 4; CHROMOSOME BANDING PATTERN; CLINICAL ARTICLE; FEMALE; FIBROMA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE FUSION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENETIC TRANSFORMATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PARACRINE SIGNALING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SCHOOL CHILD; EXON; GENETICS; PATHOLOGY; PROCEDURES; RECURRENT DISEASE; SOFT TISSUE TUMOR;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; EPIDERMAL GROWTH FACTOR; EXONS; FEMALE; FIBROMA; FIBRONECTINS; GENE FUSION; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; RECURRENCE; SOFT TISSUE NEOPLASMS;

EID: 84959216048     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4683     Document Type: Article

References (43)

1. Keasbey LE,. Juvenile aponeurotic fibroma (calcifying fibroma); a distinctive tumor arising in the palms and soles of young children. Cancer 1953; 6: 338-346.
2. Kilpatrick SE,. Calcifying aponeurotic fibroma. In WHO Classification of Tumours of Soft Tissue and Bone (4th edn). Fletcher CDM, Bridge JA, Hogendoorn PCW, et al. (eds). IARC Press: Lyon, 2013; 63.
3. Fetsch JF, Miettinen M,. Calcifying aponeurotic fibroma: a clinicopathologic study of 22 cases arising in uncommon sites. Hum Pathol 1998; 29: 1504-1510.
4. Allen PW, Enzinger FM,. Juvenile aponeurotic fibroma. Cancer 1970; 26: 857-867.
5. Lafferty KA, Nelson EL, Demuth RJ, et al., Juvenile aponeurotic fibroma with disseminated fibrosarcoma. J Hand Surg Am 1986; 11: 737-740.
6. Goldblum JR, Folpe AL, Weiss SW,. Calcifying aponeurotic fibroma. In Enzinger & Weiss's Soft Tissue Tumors (6th edn). Elsevier: Philadelphia, 2014; 276-279.
7. Iwasaki H, Kikuchi M, Eimoto T, et al., Juvenile aponeurotic fibroma: an ultrastructural study. Ultrastruct Pathol 1983; 4: 75-83.
8. Alho A, Skjeldal S, Pettersen EO, et al., Aneuploidy in benign tumors and nonneoplastic lesions of musculoskeletal tissues. Cancer 1994; 73: 1200-1205.
9. Mandahl N, Heim S, Arheden K, et al., Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet 1988; 79: 203-208.
10. Jin Y, Moller E, Nord KH, et al., Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. Genes Chromosomes Cancer 2012; 51: 510-520.
11. Walther C, Tayebwa J, Lilljebjorn H, et al., A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. J Pathol 2014; 232: 534-540.
12. Walther C, Hofvander J, Nilsson J, et al., Gene fusion detection in formalin-fixed paraffin-embedded benign fibrous histiocytomas using fluorescence in situ hybridization and RNA sequencing. Lab Invest 2015; 95: 1071-1076.
13. Iyer MK, Chinnaiyan AM, Maher CA,. ChimeraScan: a tool for identifying chimeric transcription in sequencing data. Bioinformatics 2011; 27: 2903-2904.
14. Puls F, Niblett A, Marland G, et al., BCOR-CCNB3 (Ewing-like) sarcoma: a clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma. Am J Surg Pathol 2014; 38: 1307-1318.
15. Robinson JT, Thorvaldsdottir H, Winckler W, et al., Integrative genomics viewer. Nature Biotechnol 2011; 29: 24-26.
16. Thorvaldsdottir H, Robinson JT, Mesirov JP,. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013; 14: 178-192.
17. Singh P, Carraher C, Schwarzbauer JE,. Assembly of fibronectin extracellular matrix. Annu Rev Cell Dev Biol 2010; 26: 397-419.
18. Lee JC, Jeng YM, Su SY, et al., Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour. J Pathol 2015; 235: 539-545.
19. Ren H, Tan ZP, Zhu X, et al., Identification of anaplastic lymphoma kinase as a potential therapeutic target in ovarian cancer. Cancer Res 2012; 72: 3312-3323.
20. Ouchi K, Miyachi M, Tsuma Y, et al., FN1: a novel fusion partner of ALK in an inflammatory myofibroblastic tumor. Pediatr Blood Cancer 2015; 62: 909-911.
21. Totoki Y, Yoshida A, Hosoda F, et al., Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma. Genome Res 2014; 24: 1411-1420.
22. Zeng F, Harris RC,. Epidermal growth factor, from gene organization to bedside. Semin Cell Dev Biol 2014; 28: 2-11.
23. Parries G, Chen K, Misono KS, et al., The human urinary epidermal growth factor (EGF) precursor. Isolation of a biologically active 160-kilodalton heparin-binding pro-EGF with a truncated carboxyl terminus. J Biol Chem 1995; 270: 27954-27960.
24. Harris RC,. Potential physiologic roles for epidermal growth factor in the kidney. Am J Kidney Dis 1991; 17: 627-630.
25. Cohen S, Carpenter G,. Human epidermal growth factor: isolation and chemical and biological properties. Proc Natl Acad Sci U S A 1975; 72: 1317-1321.
26. Gutman A, Yamada KM, Kornblihtt A,. Human fibronectin is synthesized as a pre-propolypeptide. FEBS Lett 1986; 207: 145-148.
27. Dean DC, Bowlus CL, Bourgeois S,. Cloning and analysis of the promotor region of the human fibronectin gene. Proc Natl Acad Sci U S A 1987; 84: 1876-1880.
28. Quade BJ, McDonald JA,. Fibronectin's amino-terminal matrix assembly site is located within the 29-kDa amino-terminal domain containing five type I repeats. J Biol Chem 1988; 263: 19602-19609.
29. Schor SL, Ellis IR, Jones SJ, et al., Migration-stimulating factor: a genetically truncated onco-fetal fibronectin isoform expressed by carcinoma and tumor-associated stromal cells. Cancer Res 2003; 63: 8827-8836.
30. Kochevar GJ, Stanek JA, Rucker EB,. Truncated fibronectin. An autologous growth-promoting substance secreted by renal carcinoma cells. Cancer 1992; 69: 2311-2315.
31. Schwarzbauer JE,. Identification of the fibronectin sequences required for assembly of a fibrillar matrix. J Cell Biol 1991; 113: 1463-1473.
32. Le Gall SM, Auger R, Dreux C, et al., Regulated cell surface pro-EGF ectodomain shedding is a zinc metalloprotease-dependent process. J Biol Chem 2003; 278: 45255-45268.
33. Nishi N, Matsushita O, Yuube K, et al., Collagen-binding growth factors: production and characterization of functional fusion proteins having a collagen-binding domain. Proc Natl Acad Sci U S A 1998; 95: 7018-7023.
34. Kitajima T, Sakuragi M, Hasuda H, et al., A chimeric epidermal growth factor with fibrin affinity promotes repair of injured keratinocyte sheets. Acta Biomater 2009; 5: 2623-2632.
35. Hayashi M, Tomita M, Yoshizato K,. Production of EGF-collagen chimeric protein which shows the mitogenic activity. Biochim Biophys Acta 2001; 1528: 187-195.
36. Tada S, Kitajima T, Ito Y,. Design and synthesis of binding growth factors. Int J Mol Sci 2012; 13: 6053-6072.
37. Ishikawa T, Terai H, Kitajima T,. Production of a biologically active epidermal growth factor fusion protein with high collagen affinity. J Biochem 2001; 129: 627-633.
38. Kawase Y, Ohdate Y, Shimojo T, et al., Construction and characterization of a fusion protein with epidermal growth factor and the cell-binding domain of fibronectin. FEBS Lett 1992; 298: 126-128.
39. b Erratum in FEBS Lett 1992; 301: 124.
40. Hannachi Imen E, Nakamura M, Mie M, et al., Construction of multifunctional proteins for tissue engineering: epidermal growth factor with collagen binding and cell adhesive activities. J Biotechnol 2009; 139: 19-25.
41. Mimura Y, Ihn H, Jinnin M, et al., Epidermal growth factor induces fibronectin expression in human dermal fibroblasts via protein kinase C delta signaling pathway. J Invest Dermatol 2004; 122: 1390-1398.
42. Miettinen PJ, Chin JR, Shum L, et al., Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nature Genet 1999; 22: 69-73.
43. Staal B, Williams BO, Beier F, et al., Cartilage-specific deletion of Mig-6 results in osteoarthritis-like disorder with excessive articular chondrocyte proliferation. Proc Natl Acad Sci U S A 2014; 111: 2590-2595.